Lista de obras - Piotr Stawinski - Dominio Público Uruguay

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations

artículo científico publicado en 2015

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

scientific article published on 12 March 2020

Abstract 5347: SK053, a small molecule inhibitor of enzymes involved in allosteric disulfide bonds formation, shows potent anti-leukemic effects and induces differentiation of human AML cells

Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Squamous Cell Carcinomas Identifies <i>KMT2C</i> as a Potential Tumor Suppressor

scientific article published on 19 May 2022

Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss

artículo científico publicado en 2017

Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

artículo científico publicado en 2014

Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.

artículo científico publicado en 2016

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.

artículo científico publicado en 2017

Inhibition of protein disulfide isomerase induces differentiation of acute myeloid leukemia cells

artículo científico publicado en 2018

Insights into the transposable mobilome of Paracoccus spp. (Alphaproteobacteria)

artículo científico publicado en 2012

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

artículo científico publicado en 2018

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

artículo científico publicado en 2016

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

artículo científico publicado en 2015

Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy

artículo científico publicado en 2019

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

artículo científico publicado en 2016

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

scientific article published on 13 July 2020

Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations

artículo científico publicado en 2017

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

artículo científico publicado en 2017

Lista de obras de Piotr Stawinski

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Abstract 5347: SK053, a small molecule inhibitor of enzymes involved in allosteric disulfide bonds formation, shows potent anti-leukemic effects and induces differentiation of human AML cells

Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Squamous Cell Carcinomas Identifies <i>KMT2C</i> as a Potential Tumor Suppressor

Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss

Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.

Inhibition of protein disulfide isomerase induces differentiation of acute myeloid leukemia cells

Insights into the transposable mobilome of Paracoccus spp. (Alphaproteobacteria)

Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss